Rheumatology Clinic Research Articles

Protracted Febrile Myalgia Syndrome: A Rare and Difficult Manifestation of Familial Mediterranean Fever.

Protracted febrile myalgia syndrome (PFMS) is characterized by severe myalgia, fever, abdominal pain, and arthralgia/arthritis episodes lasting for several weeks in patients with familial Mediterranean fever. Treatment options include nonsteroidal anti-inflammatory drugs, corticosteroids, and anti-interleukin-1 therapy. This study aimed to share our experiences of PFMS so as to shed light on this rare and elusive condition. This cross-sectional analysis included 17 patients diagnosed with PFMS at our pediatric rheumatology clinic between January 2018 and September 2023. In our clinic, 17 (1%) of 1663 familial Mediterranean fever patients presented with PFMS, and it was the initial manifestation in 10 patients (58.8%) in the cohort. Eight of the 17 patients had an M694V homozygous mutation in the MEFV gene. A magnetic resonance imaging showed myositis and fasciitis in just 1 patient, and myositis alone was evident in 5 others. Symptoms improved in 2 patients with nonsteroidal anti-inflammatory drugs, whereas prednisolone improved symptoms in 12 patients and anakinra was required in 3 patients. Patients who received anakinra had another severe attack and required long-term anakinra or canakinumab. Syndrome for PFMS is difficult to recognize as it can sometimes be the first manifestation of familial Mediterranean fever. The syndrome is not accompanied by fever in some patients, even though the word febrile is part of its name. Most patients respond dramatically to nonsteroidal anti-inflammatory drugs or corticosteroids. In some patients with PFMS, long-term anakinra or canakinumab treatment may be more useful in preventing severe attacks of PFMS than short-term (5 to 7 days) anakinra treatment.

Clinical Phenotype of HLA B*44 Patients in a Rheumatology Outpatient Clinic Favors Peripheral Arthropathies.

Objective: The genetic background of HLA-B*27 in spondyloarthritis is known, and the search for another gene with similar role is ongoing. We wanted to investigate clinical presentations of HLA-B*44 patients in rheumatology practice. Methods: A cross-sectional retrospective study of 303 HLA-B*44 adult patients from the outpatient rheumatology clinic from 5/2018-5/2024. Clinical phenotype, confirmed or excluded rheumatic diagnosis, therapy used, and data on HLA A, B, and DR alleles inherited with B*44 were analyzed. Results: A female predominance of 2.79:1 was noted. A total of 150 [49.5%] patients were referred due to peripheral joint pain, 77 [25.4%] due to combined spine and peripheral joint pain or spine alone (57 [18.8%]). A total of 19 [6.3%] patients had no symptoms of the musculoskeletal system. Statistically significant peripheral joint affection was proved in females but not in males (p = 0.04). A total of 121 [40%] patients from B*44 group had established rheumatic disease, with the rest being excluded or under observation. The most common working diagnoses were polyarthritis (32 [10.5%]) and mono-oligoarthritis (14 [4.6%]). A second allele in addition to HLA B*44 showed a similar frequency to the general population. Patients with HLA B*44/44 and B*27/44 genotypes were at the most risk for having definitive rheumatic disease (>60%). Conventional synthetic disease-modifying anti-rheumatic drugs (DMARDs) were used in 38.6% of patients, non-steroidal anti-inflammatory drugs were used in 31.6% of patients, biologic DMARDs were used in 8.9% of patients, and corticosteroids were used in 7.3% of patients. Conclusions: The most common presentation in HLA-B*44 patients is peripheral joint affection. Most patients with HLA-B*27/44 and B*44/44 genotypes had definitive rheumatic disease. B*44 homozygosity or B*27/44 might be risk factors for arthritis development.

Adult-Onset Still's Disease (AOSD)-On the Basis of Own Cases.

Adult-onset Still's disease (AOSD) is a rare chronic autoinflammatory condition characterized by a spiking fever, arthritis, a rash, hepatosplenomegaly, lymphadenopathy, leucocytosis, and hyperferritinemia. It is sometimes accompanied by life-threatening complications like macrophage activation syndrome/hemophagocytic lymphohistiocytosis (MAS/HLH). Treatment options for AOSD include glucocorticoids (GCs), immunosuppressive drugs, biological medications, and Janus kinase (JAK) inhibitors. The features that differentiate MAS/HLH from AOSD are: in MAS/HLH, a different type of fever, which is persistent, a sharp decrease in the number of leukocytes and thrombocytes, a further increase in the level of transaminases and ferritin, significant hepatosplenomegaly, lymphadenopathy, symptoms of the central nervous system (CNS), disseminated intravascular coagulation (DIC) and hemophagocytosis in the bone marrow. This study aimed to evaluate the course of AOSD, which results in MAS/HLD. Nine AOSD patients, four of whom developed MAS/HLH, were treated at the Rheumatology Clinic in the Central Clinical Hospital of the Ministry of Interior Affairs from 1 January 2015 to 15 March 2020 and at the Rheumatology Clinic in the National Institute of Geriatric, Rheumatology and Rehabilitation from 1 September 2021 to 1 March 2024. Medical history, clinical data, demographic data, laboratory data, imaging data, Hscore, and treatment data were collected. All the patients with MAS and an Hscore above 150 recovered. MAS/HLH requires rapid diagnosis as well as treatment with methylprednisolone pulses, cyclosporine A, and etoposide. When comparing patients who developed MAS/HLH with those who did not, possible risk factors were identified: the presence of pregnancy (two cases) and an aggressive course of AOSD. The Hscore is a useful tool for identifying patients with MAS/HLH.

Swinging Between Hope and Despair: Experiences of Patients with Behçet's Disease: A Phenomenological Research Study

Background: Behçet's disease (BD) can severely impact the psychosocial and emotional aspects of patients, significantly disrupting their quality of life. Objectives: The purpose of this study was to describe the psychosocial and emotional experiences of patients with BD and their coping strategies. Methods: This study was conducted using a qualitative method with a hermeneutic phenomenological approach. Data were collected through unstructured and in-depth interviews (9 conducted face-to-face and 6 via WhatsApp video calls) until data saturation was reached. Face-to-face interviews took place at the rheumatology clinic and the rheumatologist’s office from April to July 2023. Data analysis was performed using Diekelmann's seven-step method. The trustworthiness of the study was ensured based on the criteria of Lincoln and Guba, as well as Sim and Sharp. Results: By analyzing the data, 580 codes were extracted, leading to the identification of 12 sub-themes and 2 main themes. The first theme, "emotional, mental, and communicative instability," included the sub-themes of indecisiveness and uncertainty, moving away from desires and wishes, feelings of despair and demise, fears caused by the disease outcomes, sadness and mental anguish, isolationism, and reluctance to seek support. The second theme, "psychological and communicative strengthening strategies," comprised the sub-themes of having an occupation, seeking support, hoping for miracles and healing, doing mental exercises, and engaging in hobbies. Conclusions: This study revealed numerous emotional, psychological, and communicative challenges faced by patients with BD, as well as the strategies they use to cope with these problems. It is recommended that the findings of this study be used to enhance the care team's understanding of the mental and communicative issues experienced by these patients and to improve their skills in teaching psychological strengthening strategies.

Self-reported physical activity and fatigue and its associations to anxiety and depression in adult patients with idiopathic inflammatory myopathies: a MIHRA psychological impact and MIHRA exercise and rehabilitation scientific working groups collaboration.

To evaluate self-reported physical activity (PA) levels as well as the relationship between PA, anxiety, depression, quality of life, pain, fatigue, disease activity, and organ damage in patients with idiopathic inflammatory myopathies (IIM). All adult patients registered at the rheumatology clinic at Karolinska University Hospital in Stockholm, Sweden (2019-2022) were eligible to participate. Questionnaires measuring anxiety, depression (HADS), and PA (IPAQ) were provided during yearly check-up or by mail, due to reduced in-person visits amid the Covid-19 pandemic. Additional data was obtained from the Swedish Rheumatology Quality Registry. Of 488 invited patients, 336 agreed to participate, and 246 completed the questionnaires. Median (range) age was 64 (20-88) years, median disease duration five (0.3-61) years and two-thirds were women. Notably, 82% reported moderate/high level of PA. Probable anxiety and depression were experienced by 25% and 14%, respectively. The findings indicated a potential protective effect of PA against depression (OR 0.23, CI 0.06-0.95). Conversely, patients who were physically inactive had poorer mental health, reduced muscle function, increased organ damage, and fatigue. Fatigue demonstrated a progressive link to heightened risks of anxiety (2%, 2-4%) or depression (3%, 1-6%). Most patients with IIM reported being physically active. The study highlights the potential influence of PA on mental health and its role in mitigating risks associated with depression and fatigue among IIM-patients. It also underscores the importance of patient-reported outcomes, and their role in understanding and improving healthcare interventions. Further research is needed to uncover causes and confirm these associations.

Outcomes from a Multidisciplinary Otolaryngology and Rheumatology Clinic for the Management of Chronic Sialadenitis.

Determine the outcomes in children with recurrent sialadenitis after establishment of a multidisciplinary pediatric otolaryngology and rheumatology clinic. Retrospective review. Single-center tertiary medical center. We reviewed all children presenting to a multidisciplinary pediatric otolaryngology/rheumatology clinic with recurrent parotitis between December 2019 and April 2023. Thirty-three children presented with recurrent parotitis to a multidisciplinary clinic. Seventy-seven percent of those with childhood Sjögren's disease (cSjD) had xerophthalmia, and 67% had xerostomia. The cSjD group was more likely to have both abnormal parotid and submandibular findings when compared to the non-cSjD group (P < .001). Sixteen percent of the cSjD group had a positive SSA/SSB autoantibody and 47% were antinuclear antibody positive. Fifty percent of the cSjD cohort had a focus score of ≥1 from a minor salivary gland biopsy. There were no significant differences from sialendoscopy outcome between the 2 groups. Seventy percent with juvenile recurrent parotitis showed partial response (PR) or complete response (CR) to sialendoscopy. In the cSjD cohort 3 (27%) reported a CR and 5 (45%) reported a PR. In the non csSjD cohort 5 (42%) reported a CR and 3 (25%) reported a PR. Ten of the 12 cSjD patients on hydroxychloroquine have shown symptom improvement. The establishment of a multidisciplinary otolaryngology and rheumatology clinic can provide a more comprehensive evaluation and treatment of the child with recurrent or persistent parotitis than from a regular ENT clinic.

Measuring Transition Readiness of Patients After Transfer from Pediatric to Adult Care in Rheumatology.

Transitional care is essential to maintain the continuity of care in younger patients with rheumatic diseases. In this study, we aimed to assess the transition readiness of rheumatology patients who had already transferred from pediatric to adult care using a questionnaire. We included young adult rheumatology patients who had already transferred to adult rheumatology care. The Transition Readiness Assessment Questionnaire (TRAQ) was used in the adult rheumatology clinic to assess the patients' readiness; a retrospective chart review was conducted to include diagnosis, age at diagnosis, age at transfer, and current age. Three hundred and ten patients (184 female and 126 male) participated in this study. The mean age at diagnosis, the mean age at transfer, and the mean age at the time of the study were 10.7 ± 4.29, 21.1 ± 1.69, and 24.0 ± 2.26 years, respectively. Most of the patients had familial Mediterranean fever, followed by arthritis, connective tissue disorders, and other diseases. Tracking health issues was the lowest-scored domain. Females scored significantly higher than males in the tracking health issue domain (P = .006) and managing health issue domain (P = .028) but not in the overall TRAQ score (P = .053). Patients in different diagnosis and transfer age groups scored similarly across the domains. In this study, females performed better than males in 2 domains of the TRAQ questionnaire. Diagnoses or transfer age groups were not associated with TRAQ outcomes.

Obesity and methotrexate treatment failure in rheumatoid arthritis patients in Cipto Mangunkusumo Hospital, Indonesia

Rheumatoid arthritis (RA) is a chronic, systemic autoimmune disease which mainly manifests in the joints. Methotrexate (MTX) is a widely used pharmacological treatment for RA. To date, no prior research has investigated the effect of obesity on MTX treatment outcomes among RA patients in Indonesia. This research aimed to investigate the effect of obesity on MTX monotherapy failure in RA patients. We conducted a retrospective cohort study using medical records from the Rheumatology Clinic at Cipto Mangunkusumo Hospital from March 2017 to December 2021. Descriptive and estimation analyses were performed to assess the sample characteristics based on each variable and a logistic regression analysis was conducted to evaluate the association between obesity and MTX treatment failure. Out of 72 subjects, the proportion of MTX treatment failure was 57.1% (20/35) among obese patients and 37.8% (14/37) among non-obese patients. Obese subjects exhibited a 2.11-fold increased risk of MTX treatment failure compared to non-obese patients (OR 2.11; 95% CI 0.81-5.45). The number of joints involved was found to emerge as a confounding factor in this study. Our findings suggest that RA patients with obesity potentially have an increased risk of MTX treatment failure compared to non-obese RA patients.

Anxiety and Work Disability in Patients With Immune-Mediated Inflammatory Diseases: A Cross-Sectional Study From a Single Center.

Immune-mediated inflammatory diseases (IMIDs) are chronic diseases that are associated with an inflammatory process with unclear etiology and occur in genetically predisposed individuals. In this study, inflammatory bowel disease (IBD) and rheumatic disease (RD) were examined. The aim of the research is to evaluate the relationship between IMID and state anxiety and work impairment in patients. A cross-sectional study was conducted in an outpatient clinic for rheumatology and gastroenterology at an Italian university hospital. A total of 476 patients (261 IBD and 215 RD) were considered. Patients diagnosed with IBD demonstrated significantly higher levels of anxiety, encompassing both trait and state anxiety, compared to those with RD ( p <.001). While trait anxiety exhibited a modest positive correlation with work productivity loss ( r =.163; p =.046), activity impairment showed a positive correlation with both state anxiety ( r =.243; p <.001) and trait anxiety ( r =.206; p =.002). The impact of anxiety on job performance and daily activities should not be underestimated, as it may elevate the risk of unemployment and absenteeism and lead to increased societal costs.

Clinical characteristics and risk factors for lupus flares in sub-Saharan Africa-retrospective cross-sectional study.

Systemic lupus erythematosus (SLE) is an autoimmune disease with a variable course with unpredictable flares. Identifying predictors of these flares is essential for monitoring and timely hospital care. To characterize the prevalence of flares within the first five years of SLE diagnosis and determine the clinical and immunological characteristics associated with flare development among patients attending the Rheumatology Clinic at Tikur Anbesa Specialized Hospital (TASH) and Lancet General Hospital. A multicenter, cross-sectional study was conducted from May 2023 to November 2023 at TASH and Lancet General Hospital. The data was collected from electronic medical records and analyzed using SPSS version 26. Logistic regressions were used to determine factors associated with lupus flare. Most patients with SLE were female (95.4%). The most common clinical presentations were musculoskeletal (71.8%), cutaneous (55%), and constitutional (22%). Almost half (44.3%) of the patients had comorbidity illness. Positive ANA test was found in 96.5% of the patients, whereas only 55% had positive anti-dsDNA test. The prevalence of SLE flare in the first five years of SLE diagnosis was 38.9%, and most flares occurred within the first year of diagnosis. Patients with the following characteristics were more likely to have flare-ups: younger age at diagnosis (less than 25years old), initial presentation with vasculitis, renal flare, and being on low-dose prednisolone. The most common clinical presentations were musculoskeletal, dermatologic, and constitutional manifestations. Age < 25years at diagnosis, initial clinical presentation with renal manifestation, and being on low-dose prednisolone were predictors of SLE flare. Key Points • This study found a significant gender disparity, with 95% female. • Nearly 39% of patients experienced an SLE flare within the first five years of diagnosis. • Over three-quarters (77%) of flares occurred within the first year of diagnosis. • Age less than 25years, initial presentation with vasculitis, renal involvement, and being on low-dose prednisolone were identified as predictors of flares.

Severity of Pain Catastrophizing and Its Associations With Cognitive Flexibility and Self-Efficacy in Patients With Rheumatoid Arthritis.

Pain catastrophizing in patients with rheumatoid arthritis exacerbates negative pain-related outcomes, such as anxiety, depression, and pain intensity. Therefore, it is essential to investigate the severity of pain catastrophizing and the factors contributing to it among these patients. The present study aimed to assess the severity of pain catastrophizing and its association with cognitive flexibility and self-efficacy in a sample of Iranian patients with rheumatoid arthritis. A descriptive correlational study was conducted on 220 rheumatoid patients referred to a rheumatology clinic affiliated with Birjand University of Medical Sciences, Birjand, Iran. The instruments used to collect data included a demographic form, the Pain Catastrophizing Scale, the Cognitive Flexibility Inventory, and the Arthritis Self-Efficacy Scale. The data were analysed using SPSS version 24. The mean age of the participants was 53.25±12.41years, and the mean duration of their disease was 6.63±3.39years. The majority of participants, specifically 61.8%, reported high levels of pain catastrophizing. An inverse and significant correlation was found between pain catastrophizing and cognitive flexibility (p<0.001). Likewise, pain catastrophizing exhibited an inverse and significant correlation with self-efficacy and all its dimensions (p<0.001). The results of the multiple linear regression analysis indicate that the final significant predictors of pain catastrophizing were cognitive flexibility (β=-0.34, p<0.001) and self-efficacy (β=-0.53, p<0.001). These predictors were found to significantly explain 51% of the variance in catastrophizing. Through psychosocial interventions aimed at enhancing pain self-efficacy and cognitive flexibility, healthcare providers can hope to reduce pain catastrophizing and its adverse effects in patients with rheumatoid arthritis.

Prevalence of HLA-B27, clinical characteristics and treatment outcomes in children with enthesitis-related arthritis

BackgroundEnthesitis-related arthritis (ERA) is a subtype of juvenile idiopathic arthritis with high disease burden. The objectives of this study were to explore the prevalence of HLA-B27, clinical characteristics, and treatment outcomes in children with ERA and compare the differences between HLA-B27 positive and negative patients.MethodsA retrospective cohort study at a pediatric rheumatology clinic in a tertiary referral hospital in Bangkok, Thailand, including ERA patients with at least 6 months of follow-up (July 2011-April 2022) was performed. Data were collected from medical records from diagnosis to recent follow-up, assessing disease activity and treatment outcomes, with an analysis comparing HLA-B27 positive and negative patients. Descriptive statistics were used for data analysis.ResultsThere were 59 ERA patients with mean age ± SD at diagnosis 11.2 ± 2.5 years, 53 males (89.8%), and positive HLA-B27 in 38 patients (64.4%). The HLA-B27 positive group had significantly higher levels of inflammatory markers at initial diagnosis (p = 0.001), lower baseline hemoglobin (p = 0.001) and hematocrit (p = 0.002), higher disease activity assessed by the Juvenile Spondyloarthritis Disease Activity score at 6 and 12 months of follow-up (p = 0.028 and 0.040, respectively), increased utilization of bridging systemic corticosteroids (60.5% vs. 14.3%, p = 0.001) and anti-TNF (39.5% vs. 9.5%, p = 0.018), and longer duration of methotrexate (median[IQR] 1.7[1.1–3.1] vs. 1.3[0.6–1.9] years, p = 0.040). The HLA-B27 negative group had more prevalent hip arthritis than the positive group at initial diagnosis (66.7% vs. 28.9%, p = 0.005) and during the course of the disease (71.4% vs. 36.8%, p = 0.011).ConclusionMost of the ERA patients tested positive for HLA-B27. Throughout the follow-up period, these patients demonstrated greater disease activity, greater use of corticosteroids and anti-TNF, and longer duration of methotrexate to control the disease.

Audiovestibular Involvement in Patients With Systemic Sclerosis.

Audiovestibular dysfunction has been reported in many autoimmune connective tissue diseases, including systemic sclerosis (SSc). To assess the prevalence and features of audiological and vestibular disturbances in SSc patients and evaluate their relationship with disease duration, clinical features, nailfold videocapillaroscopy pattern, and immunologic profiles. A matched case-control study was conducted in a rheumatology clinic of a second-level hospital over 24 months. All patients underwent a detailed ear, nose, and throat examination, as well as audiometric and vestibular assessments, including pure tone audiometry, speech audiometry, immittance tests, and the Video Head Impulse Test. Thirty-five SSc patients and 24 healthy controls were included in the study. In the SSc group, subjective hearing loss was reported by 17.1% of patients, vertigo by 14.3%, tinnitus by 11.4%, and dizziness by 5.7%. Sensorineural hearing loss was identified in 42.9% of SSc patients, significantly higher than in the control group (p = 0.013). There was no correlation between audiological manifestations and clinical symptoms, organ involvement, immunologic characteristics, and treatment. Vestibular dysfunction was detected in 60% of SSc patients, significantly higher than the control group (p = 0.05). A significant correlation was found between abnormal Video Head Impulse Test and the presence of anti-RNA polymerase III and anti-Th/To antibodies (p = 0.05 and p = 0.034, respectively). Our study revealed an increased prevalence of sensorineural hearing loss and vestibulopathy in SSc patients.

Utilization of Whole-Body Magnetic Resonance Imaging in Challenging Diagnoses in Pediatric Rheumatology.

The aim of this study was to investigate the use of whole-body magnetic resonance imaging (WBMRI) in cases where we suspected rheumatic disease in our pediatric rheumatology clinic. We conducted a retrospective analysis of demographic, clinical, laboratory, and imaging data pertaining to pediatric patients who presented at our clinic and underwent WBMRI over the last 5 years. Our investigation targeted children experiencing diffuse musculoskeletal pain, where precise localization was challenging and suspicion of rheumatological pathology persisted despite inconclusive results from conventional diagnostic modalities. A total of 87 patients (33 female) underwent WBMRI at our clinic, with a median age (minimum-maximum) of 11.3 (0.5-18) years. Whole-body magnetic resonance imaging was performed in 4 patients suspected with dermatomyositis (DM) where muscle biopsy was not feasible, revealing muscle involvement and myositis. Additionally, WBMRI was utilized in 4 patients diagnosed with chronic nonbacterial osteomyelitis (CNO) to assess recurrence, identifying new active lesions in 3 patients. Among the remaining 79 patients, 34 received a new diagnosis of CNO. Clinically, supported by additional findings in laboratory and WBMRI, 18 were diagnosed with juvenile idiopathic arthritis (JIA), 5 with protracted febrile myalgia syndrome (PFMS), 5 with acute osteomyelitis, and 1 with viral myositis. The results were normal for 17 patients. Most of the WBMRIs conducted at the clinic under study were primarily performed on patients suspected of having CNO. Additionally, WBMRI was found to be supportive and beneficial in cases of suspected DM, PFMS, and JIA during the diagnosis.

Alignment of contraception use with the ACR reproductive health guidelines in women with systemic lupus erythematosus within the RISE registry

ObjectivesContraception is crucial for safely timing pregnancies in patients with SLE. This study investigated predictors of contraception documentation in patients with SLE, and the alignment of contraception practices with the...

Tuberculosis is the predominant infection in systemic sclerosis: thirty-year retrospective study of serious infections from a single centre.

To look for the spectrum of infections and the factors predisposing to infection in patients with systemic sclerosis (SSc). In this retrospective study, demographic, clinical features, details of infections, immunosuppressive therapy, and outcomes of patients with SSc attending clinics at department of Clinical Immunology and Rheumatology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India from 1990 to 2022 were captured. Multivariable-adjusted logistic regression was applied to identify independent predictors of infection. Data of 880 patients, mean age 35.5 ± 12 years, and female: male ratio 7.7:1, were analyzed. One hundred and fifty-three patients had at least 1 infection with a total of 233 infectious episodes. Infections were most common in lung followed by skin and soft tissue. Tuberculosis was diagnosed in 45 patients (29.4%). Klebsiella was the commonest non-tubercular organism in lung and Escherichia coli in urinary tract infections. In comparison to matched control group, patients with infection had a greater number of admissions due to active disease, odds ratio (OR) 6.27 (CI 3.23-12.18), were receiving immunosuppressive medication OR, 5.05 (CI 2.55-10.00), and had more digital ulcers OR, 2.53 (CI 1.17-5.45). Patients who had infection had more likelihood for death OR, 13.63 (CI 4.75 -39.18). Tuberculosis is the commonest infection and lung remains the major site of infection in patients with SSc. Number of hospital admissions, digital ulcers and immunosuppressive therapy are predictors of serious infection in patients with SSc. Patients with infections had more likelihood of death.

The burden of rheumatologic disease in Aboriginal and Torres Strait Islander Australians.

The objective of this article is to summarise the current knowledge regarding the prevalence of six rheumatological conditions in indigenous Australians - rheumatoid arthritis (RA), osteoarthritis (OA), osteoporosis (OSP), systemic lupus erythematosus (SLE), gout and musculoskeletal (MSK) pain. Online medical literature databases were searched for 'indigenous', 'Aboriginal' and 'Torres Strait Islander', as well as the names of the six conditions. Other included search terms were 'crystal', 'urate', 'arthritis' and 'arthropathy'. No limitations were placed on publication data or language. Forty-five articles examining the prevalence of the six conditions were identified. Based on the published literature, SLE appears to have a higher prevalence, while RA appears to have a lower prevalence in indigenous Australians compared to the non-indigenous community. MSK pain is prevalent, has a significant impact on indigenous people and is perceived as an important area of need. There is a paucity of data regarding these conditions in indigenous Australians. This may be impacted by the uncertainty of case ascertainment by self-report, differences in disease phenotypes and prevalence between the metropolitan compared to the rural or remote indigenous population, and difficulty with access to healthcare. Further studies in conjunction with local indigenous communities are needed to accurately determine the burden of rheumatological disease in the indigenous population. This will assist with resource and workforce planning to deliver culturally appropriate interventions. Strategies for future clinical work and research include the development and dissemination of culturally safe rheumatology resources, rheumatology training of Aboriginal Health Workers and wider integration of rheumatology clinics into community-controlled Aboriginal Health Services.

Vignette-based comparative analysis of ChatGPT and specialist treatment decisions for rheumatic patients: results of the Rheum2Guide study

BackgroundThe complex nature of rheumatic diseases poses considerable challenges for clinicians when developing individualized treatment plans. Large language models (LLMs) such as ChatGPT could enable treatment decision support.ObjectiveTo compare treatment plans generated by ChatGPT-3.5 and GPT-4 to those of a clinical rheumatology board (RB).Design/methodsFictional patient vignettes were created and GPT-3.5, GPT-4, and the RB were queried to provide respective first- and second-line treatment plans with underlying justifications. Four rheumatologists from different centers, blinded to the origin of treatment plans, selected the overall preferred treatment concept and assessed treatment plans’ safety, EULAR guideline adherence, medical adequacy, overall quality, justification of the treatment plans and their completeness as well as patient vignette difficulty using a 5-point Likert scale.Results20 fictional vignettes covering various rheumatic diseases and varying difficulty levels were assembled and a total of 160 ratings were assessed. In 68.8% (110/160) of cases, raters preferred the RB’s treatment plans over those generated by GPT-4 (16.3%; 26/160) and GPT-3.5 (15.0%; 24/160). GPT-4’s plans were chosen more frequently for first-line treatments compared to GPT-3.5. No significant safety differences were observed between RB and GPT-4’s first-line treatment plans. Rheumatologists’ plans received significantly higher ratings in guideline adherence, medical appropriateness, completeness and overall quality. Ratings did not correlate with the vignette difficulty. LLM-generated plans were notably longer and more detailed.ConclusionGPT-4 and GPT-3.5 generated safe, high-quality treatment plans for rheumatic diseases, demonstrating promise in clinical decision support. Future research should investigate detailed standardized prompts and the impact of LLM usage on clinical decisions.

The epigenetic determinants for systemic juvenile idiopathic arthritis phenotyping and treatment response

BackgroundDetermining the role of epigenetics in systemic juvenile idiopathic arthritis (SJIA) provides an opportunity to explore previously unrecognized disease pathways and new therapeutic targets.AimWe aimed to identify the clinical significance of microRNAs (miRNA-26a, miRNA-223) in SJIA.Materials and methodsThis cross-sectional study was conducted on a group of children with SJIA attending to pediatric rheumatology clinic, at Mansoura University Children’s Hospital (MUCH) from December 2021 to November 2022. Patient demographics, and clinical, and laboratory data were collected with the measurement of microRNAs by quantitative real-time PCR. The Mann–Whitney, Kruskal–Wallis, and Spearman correlation tests were used for variable comparison and correlations, besides the receiver operating characteristic (ROC) curve for microRNAs disease activity and treatment non-response discrimination.ResultsForty patients were included in the study. On comparison of miRNA-26a, and miRNA-223 levels to the clinical, assessment measures, and laboratory features, miRNA-26a was statistically higher in cases with systemic manifestations versus those without. Similarly, it was higher in children who did not fulfill the Wallace criteria for inactive disease and the American College of Rheumatology (ACR) 70 criteria for treatment response. Meanwhile, miRNA-223 was not statistically different between cases regarding the studied parameters. The best cut-off value for systemic juvenile arthritis disease activity score-10 (sJADAS-10) and the ability of miRNA-26a, and miRNA-223 to discriminate disease activity and treatment non-response were determined by the (ROC) curve.ConclusionThe significant association of miRNA-26a with SJIA features points out that this molecule may be preferentially assessed in SJIA disease activity and treatment non-response discrimination.

Clinical Associations of E148Q Heterozygosity: What to Expect From E148Q?

The exact effects of MEFV variants on inflammation are still under investigation, and reports on variants of unknown significance, particularly the E148Q variant, have been conflicting. Therefore, this study aims to investigate patients exhibiting E148Q heterozygosity, focusing on diagnoses and disease courses to assist physicians in interpreting the variant. Data of pediatric patients presenting to the Pediatric Rheumatology clinic between November 2016 and September 2023, exhibiting only E148Q heterozygosity in MEFV gene analysis, were extracted. Patients who were lost before 9 months of follow-up have been excluded to ensure the completion of initial diagnostic tests and evaluations. Among the 119 patients with E148Q variant, the diagnoses were as follows: healthy, 51.3%; IgA vasculitis, 10.1%; Familial Mediterranean Fever (FMF), 7.6%; Periodic fever, Aphtous stomatitis, Pharyngitis, Adenitis (PFAPA), 6.7%; and other diagnoses, 19.3%. IgA vasculitis patients experienced articular, gastrointestinal, and renal involvement at rates of 91.7%, 58.3%, and 16.7%, respectively. Complete response, partial response, and no response to colchicine were 37.5%, 12.5%, and 50%, respectively, in PFAPA patients. All FMF patients responded to colchicine treatment resulting in reduced mean FMF episode counts in 6 months from 3.22 ± 0.92 to 0.56 ± 0.52. The E148Q variant may amplify inflammation and modify disease courses. Patients with the E148Q variant experiencing typical FMF episodes should receive colchicine, but clinicians should exercise caution regarding alternative diagnoses. Additionally, the E148Q variant may increase acute phase reactants and disease severity in IgA vasculitis. However, to reach definitive conclusions on its treatment-modifying role in PFAPA, universal diagnosis and treatment response criteria should be adopted.